DCP (RaDiCo Cohort) (RaDiCo-DCP)

Primary Ciliary Dyskinesias (PCD) are rare, autosomal recessive respiratory diseases, due to a defect in mucociliary clearance linked to abnormalities in the structure and/or function of the cilia. The variety of ciliary abnormalities identified reflects the genetic heterogeneity of PCDs. The thirty or so genes currently implicated explain the pathology in about half of the patients. PCDs are characterized by recurrent infections of the upper (rhinosinusitis) and lower (bronchitis) airways, beginning in early childhood and progressing respectively to nasal polyposis and bronchial dilatation. In half of the cases, there is a lateralization defect of the organs (situs inversus) corresponding to Kartagener's syndrome. There is more frequent infertility in men (immobility of spermatozoa) than in women (miscarriages and tubal pregnancies). About a third of patients progress to respiratory failure. The identification of predictive factors of severity, specific to PCDs, would improve patient care. It is also important to assess the quality of life of patients with PCD, particularly at the ENT level. Data from prevalent patients are currently integrated into three separate and complementary databases: the "e-RespiRare" database, the "DCP Cils" database and the "DCP genes" database. The first step is therefore to constitute the RaDiCo-DCP database which will include data from prevalent and incident patients whose diagnosis of PCD is certain. The cohort aims to improve the routine ca…

This description comes directly from the study's public registry record.

Bernard MAITRE  ·  +33 1 57 02 20 82  ·  bernard.maitre@chicreteil.fr

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